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Talk Title | Speaker | Abstract | Duration |
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A comprehensive performance assessment of human genotyping arrays for analyzing polygenic risk scores among diverse populations | Dr. Nam Sy Vo, Ph.D. | Regardless of the expansion of next-generation sequencing technologies, microarray-based genotyping remains a cost-effective means in genome-wide association studies (GWAS) and, more recently, in polygenic risk score (PRS) analysis. In this webinar, Dr. Vo will present data from a study where he and his team performed a comprehensive performance assessment for 23 available human genotyping arrays in 6 ancestry groups using diverse public and in-house datasets. The analyses focused on the evaluation of derived imputation and polygenic risk score (PRS) in three phenotypes including, height, BMI, and type 2 diabetes. The study found that the arrays that are well-optimized for the targeted population, not the ones with a higher number of SNPs, achieved the best imputation performance. In addition, PRS estimated by imputed genotyping data and whole-genome sequencing data is highly correlated in most cases. When optimal arrays are used, the correlation of PRS between two types of data is higher than 0.97, but interestingly, arrays with high density can result in lower PRS performance. The study results suggest the importance of properly selecting a suitable genotyping array for PRS analysis. | 40 mins |
For Research Use Only. Not for use in diagnostic procedures.
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